المؤلفون: Sara Massucco, Cristina Schenone, Elena Faedo, Chiara Gemelli, Emilia Bellone, Lucio Marinelli, Davide Pareyson, Chiara Pisciotta, Tiziana Mongini, Angelo Schenone, Marina Grandis

المصدر: Frontiers in Neurology, Vol 14 (2024)

مصطلحات موضوعية: CMT, Charcot–Marie–Tooth disease, CMT1A, sleep disorders, sleep apnea, respiratory disorders, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2023.1298473/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/ecc7757579ef4f69bbec7debe720e4d1Test

المؤلفون: Kaori Sakuishi, Masashi Hamada, Nanaka Yamaguchi-Takegami, Naoki Takegami, Tatsushi Toda

المصدر: Internal Medicine. 2024, 63(2):315

المؤلفون: Malavika A. Nair, Zhiyv Niu, Nicholas N. Madigan, Alexander Y. Shin, Jeffrey S. Brault, Nathan P. Staff, Christopher J. Klein

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: CMT, clinical trials, neuropathy, gene therapy, CMT1A, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2023.1251885/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/fffd27d25be6484893fe60078954b4a9Test

المؤلفون: Zhiyong Chen, Monica Saini, Shermyn X. M. Neo, Peng-Soon Ng, Jasmine S. Koh, Kalpana Prasad, Kamal Verma, Sonia Davila, Weng Khong Lim, Ziqun Phua, Michelle M. Li, Corrine Kang, Karine S. S. Tay, Josiah Y. H. Chai

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: Charcot-Marie-Tooth type 1A (CMT1A), CMT1A duplication, PMP22 protein, peripheral nerve ultrasound, Charcot-Marie-Tooth disease, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2022.826634/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/122ed859f02f48209083cb190856b4b9Test

المؤلفون: Shahram Attarian, Peter Young, Thomas H. Brannagan, David Adams, Philip Van Damme, Florian P. Thomas, Carlos Casanovas, Jafar Kafaie, Céline Tard, Maggie C. Walter, Yann Péréon, David Walk, Amro Stino, Marianne de Visser, Camiel Verhamme, Anthony Amato, Gregory Carter, Laurent Magy, Jeffrey M. Statland, Kevin Felice

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: Charcot–Marie–Tooth, CMT1A, Neuromuscular disorder, Overall Neuropathy Limitations Scale, PMP22, PXT3003, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/cdd77817d00b47deb0f0fb315c44524eTest

المؤلفون: Vukan Ivanovic, Bogdan Bjelica, Aleksa Palibrk, Marija Brankovic, Ivo Bozovic, Ivana Basta, Andrija Savic, Vidosava Rakocevic Stojanovic, Aleksandra Kacar

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: Charcot-Marie-Tooth type 1A (CMT1A), quality of life, impairment, disability, fatigue, depression, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2022.852150/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/cb5b7c130fa742098863ee5dd794566dTest

المؤلفون: Massucco, Sara, Schenone, Cristina, Faedo, Elena, Gemelli, Chiara, Bellone, Emilia, Marinelli, Lucio, Pareyson, Davide, Pisciotta, Chiara, Mongini, Tiziana, Schenone, Angelo, Grandis, Marina

المساهمون: Massucco, Sara, Schenone, Cristina, Faedo, Elena, Gemelli, Chiara, Bellone, Emilia, Marinelli, Lucio, Pareyson, Davide, Pisciotta, Chiara, Mongini, Tiziana, Schenone, Angelo, Grandis, Marina

مصطلحات موضوعية: CMT, CMT1A, Charcot–Marie–Tooth disease, respiratory disorder, sleep apnea, sleep disorders

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38229594; info:eu-repo/semantics/altIdentifier/wos/WOS:001142237800001; volume:14; firstpage:1298473; lastpage:N/A; journal:FRONTIERS IN NEUROLOGY; https://hdl.handle.net/11567/1165215Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85182460463

الإتاحة: https://doi.org/10.3389/fneur.2023.1298473Test
https://hdl.handle.net/11567/1165215Test

المؤلفون: Xu, Isaac R L, Danzi, Matt C, Ruiz, Ariel, Raposo, Jacquelyn, De Jesus, Yeisha Arcia, Reilly, Mary M, Cortese, Andrea, Shy, Michael E, Scherer, Steven S, Herrmann, David N, Fridman, Vera, Baets, Jonathan, Saporta, Mario, Seyedsadjadi, Reza, Stojkovic, Tanya, Claeys, Kristl G, Patel, Pooja, Feely, Shawna, Rebelo, Adriana P, Dohrn, Maike F, Züchner, Stephan

المصدر: J Peripher Nerv Syst ; ISSN:1529-8027 ; Volume:29 ; Issue:2

مصطلحات موضوعية: CMT1A, CMTES, Charcot–Marie–Tooth disease, PMP22, disease severity, genetic modifiers, natural history, phenotype outliers, whole genome sequencing

العلاقة: https://doi.org/10.1111/jns.12621Test; https://pubmed.ncbi.nlm.nih.gov/38581130Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11209807Test/

الإتاحة: https://doi.org/10.1111/jns.12621Test
https://pubmed.ncbi.nlm.nih.gov/38581130Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11209807Test/

المؤلفون: Zhukovsky, Nikolay, Silvano, Marianna, Filloux, Thierry, Gonzalez, Sergio, Krause, Karl-Heinz

المصدر: ISSN: 1422-0067 ; International journal of molecular sciences, vol. 23, no. 13 (2022) 7405.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616.07, CMT1A, MHC class II (MHCII), Hereditary motor and sensory neuropathy (HMSN), Interleukin-6 (IL-6), Peripheral myelin protein (PMP22), Recombinant AAT, ADAM17 Protein / genetics, Animals, Charcot-Marie-Tooth Disease / drug therapy, Charcot-Marie-Tooth Disease / genetics, Charcot-Marie-Tooth Disease / metabolism, Disease Models, Animal, Disease Progression, Inflammation / drug therapy, Mice, Transgenic, Myelin Proteins / genetics, Alpha 1-Antitrypsin Deficiency

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35806409; https://archive-ouverte.unige.ch/unige:163546Test; unige:163546

الإتاحة: https://doi.org/10.3390/ijms23137405Test
https://archive-ouverte.unige.ch/unige:163546Test

المؤلفون: Nikolay Zhukovsky, Marianna Silvano, Thierry Filloux, Sergio Gonzalez, Karl-Heinz Krause

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 13; Pages: 7405

مصطلحات موضوعية: CMT1A, hereditary motor and sensory neuropathy (HMSN), recombinant AAT, interleukin-6 (IL-6), MHC class II (MHCII), peripheral myelin protein (PMP22)

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Immunology; https://dx.doi.org/10.3390/ijms23137405Test

الإتاحة: https://doi.org/10.3390/ijms23137405Test